{"title":"3例罕见基因型为HBB:c.316-146T > G的病例的基因型和表型分析。","authors":"Yan-Bin Cao, Yi-Yuan Ge, Long-Xu Xie, Guang-Kuan Zeng, Bai-Ru Lai, Xiao-Hua Yu, Jian-Lian Liang, Li-Ye Yang","doi":"10.1080/16078454.2024.2433188","DOIUrl":null,"url":null,"abstract":"<p><strong>Objectives: </strong>To explore the genotypic and phenotypic characteristics of <i>HBB</i>: c.316-146T > G carriers in China.</p><p><strong>Methods: </strong>The blood routine parameters and hemoglobin electrophoresis data of carriers were analyzed using PCR combined with reverse dot blot (RDB), gap-PCR, and DNA sequencing.</p><p><strong>Results: </strong>The blood routine parameters of all these three cases were MCV < 82fl and MCH < 27pg, and hemoglobin electrophoresis showed HbA<sub>2</sub> ≥ 4.60%. Genetic testing results: two cases were heterozygous mutations of <i>HBB</i>:c.316-146T > G, the other one was heterozygous mutation of <i>HBB</i>:c.316-146T > G combined with -<sup>SEA</sup> deletion.</p><p><strong>Conclusion: </strong>The hematological phenotype of <i>HBB</i>:c.316-146T > G mutation carriers is similar to that of common β<sup>+</sup> heterozygous mutations, presenting with hypochromic, microcytic red cell indices. If the hematological phenotype does not match the results of genetic testing, further detection techniques such as Sanger sequencing, MLPA, next-generation sequencing (NGS), etc. are required to avoid missing rare or novel mutation types.</p>","PeriodicalId":13161,"journal":{"name":"Hematology","volume":"29 1","pages":"2433188"},"PeriodicalIF":2.0000,"publicationDate":"2024-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"The genotype and phenotype analysis in 3 cases with the rare genotype of HBB:c.316-146T > G.\",\"authors\":\"Yan-Bin Cao, Yi-Yuan Ge, Long-Xu Xie, Guang-Kuan Zeng, Bai-Ru Lai, Xiao-Hua Yu, Jian-Lian Liang, Li-Ye Yang\",\"doi\":\"10.1080/16078454.2024.2433188\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<p><strong>Objectives: </strong>To explore the genotypic and phenotypic characteristics of <i>HBB</i>: c.316-146T > G carriers in China.</p><p><strong>Methods: </strong>The blood routine parameters and hemoglobin electrophoresis data of carriers were analyzed using PCR combined with reverse dot blot (RDB), gap-PCR, and DNA sequencing.</p><p><strong>Results: </strong>The blood routine parameters of all these three cases were MCV < 82fl and MCH < 27pg, and hemoglobin electrophoresis showed HbA<sub>2</sub> ≥ 4.60%. Genetic testing results: two cases were heterozygous mutations of <i>HBB</i>:c.316-146T > G, the other one was heterozygous mutation of <i>HBB</i>:c.316-146T > G combined with -<sup>SEA</sup> deletion.</p><p><strong>Conclusion: </strong>The hematological phenotype of <i>HBB</i>:c.316-146T > G mutation carriers is similar to that of common β<sup>+</sup> heterozygous mutations, presenting with hypochromic, microcytic red cell indices. If the hematological phenotype does not match the results of genetic testing, further detection techniques such as Sanger sequencing, MLPA, next-generation sequencing (NGS), etc. are required to avoid missing rare or novel mutation types.</p>\",\"PeriodicalId\":13161,\"journal\":{\"name\":\"Hematology\",\"volume\":\"29 1\",\"pages\":\"2433188\"},\"PeriodicalIF\":2.0000,\"publicationDate\":\"2024-12-01\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Hematology\",\"FirstCategoryId\":\"3\",\"ListUrlMain\":\"https://doi.org/10.1080/16078454.2024.2433188\",\"RegionNum\":4,\"RegionCategory\":\"医学\",\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"2024/11/25 0:00:00\",\"PubModel\":\"Epub\",\"JCR\":\"Q3\",\"JCRName\":\"HEMATOLOGY\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Hematology","FirstCategoryId":"3","ListUrlMain":"https://doi.org/10.1080/16078454.2024.2433188","RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"2024/11/25 0:00:00","PubModel":"Epub","JCR":"Q3","JCRName":"HEMATOLOGY","Score":null,"Total":0}
引用次数: 0
摘要
目的：探讨中国 HBB: c.316-146T > G 携带者的基因型和表型特征：方法：采用 PCR 结合反向点印迹（RDB）、间隙 PCR 和 DNA 测序技术，分析中国 HBB：c.316-146T > G 携带者的血常规指标和血红蛋白电泳数据：方法：采用PCR结合反向点印迹（RDB）、gap-PCR和DNA测序对携带者的血常规指标和血红蛋白电泳数据进行分析：这三个病例的血常规指标均为 MCV 2 ≥ 4.60%。基因检测结果：两例为HBB:c.316-146T > G的杂合突变，另一例为HBB:c.316-146T > G合并-SEA缺失的杂合突变：结论：HBB:c.316-146T > G突变携带者的血液学表型与常见的β+杂合突变相似，表现为低色素、小红细胞指数。如果血液学表型与基因检测结果不符，则需要进一步采用桑格测序、MLPA、下一代测序（NGS）等检测技术，以避免遗漏罕见或新型突变类型。
The genotype and phenotype analysis in 3 cases with the rare genotype of HBB:c.316-146T > G.
Objectives: To explore the genotypic and phenotypic characteristics of HBB: c.316-146T > G carriers in China.
Methods: The blood routine parameters and hemoglobin electrophoresis data of carriers were analyzed using PCR combined with reverse dot blot (RDB), gap-PCR, and DNA sequencing.
Results: The blood routine parameters of all these three cases were MCV < 82fl and MCH < 27pg, and hemoglobin electrophoresis showed HbA2 ≥ 4.60%. Genetic testing results: two cases were heterozygous mutations of HBB:c.316-146T > G, the other one was heterozygous mutation of HBB:c.316-146T > G combined with -SEA deletion.
Conclusion: The hematological phenotype of HBB:c.316-146T > G mutation carriers is similar to that of common β+ heterozygous mutations, presenting with hypochromic, microcytic red cell indices. If the hematological phenotype does not match the results of genetic testing, further detection techniques such as Sanger sequencing, MLPA, next-generation sequencing (NGS), etc. are required to avoid missing rare or novel mutation types.
期刊介绍：
Hematology is an international journal publishing original and review articles in the field of general hematology, including oncology, pathology, biology, clinical research and epidemiology. Of the fixed sections, annotations are accepted on any general or scientific field: technical annotations covering current laboratory practice in general hematology, blood transfusion and clinical trials, and current clinical practice reviews the consensus driven areas of care and management.
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